Tortured journeys lead to nowhere with rare disease PSP hard to diagnose, has no cure

some die never knowing cause

December 15, 1997|By Diana K. Sugg | Diana K. Sugg,SUN STAFF

Their words emerge as slurred whispers. They often lose their balance and fall backward, grabbing for towel fixtures and smashing into walls. Their faces freeze in anguished expressions. Their eye muscles are so weak that they can't look down. One patient, Bill Scruggs, can't even see his grandchildren playing near his feet. They, in turn, shy away from him.

The collective symptoms are so distinctive that diagnosis would seem easy. But this neurodegenerative disease, progressive supranuclear palsy, or PSP, is rare. That fact forces Scruggs and other patients into one of the most tortured journeys in medicine.

Because their symptoms are unfamiliar, neighbors shun them and doctors dismiss them. Victims wander for years before finding out what went wrong, and some die never knowing. Commonly misdiagnosed, they wind up taking the wrong

medicines and becoming misfits in support groups for ailments that aren't their own. They find themselves praying that someone famous will come down with the same thing, to boost awareness and research dollars.

With PSP and other rare illnesses, those who ultimately reach the right diagnosis discover it leads nowhere. There are no cures and few treatments.

Across the country, these circumstances are spurring the formation of dozens of advocacy groups for rare illnesses, as well as expansion drives among older groups.

The Society for Progressive Supranuclear Palsy, based at Johns Hopkins Hospital and founded in 1990, has nearly doubled its membership in the past year, from 3,000 to 5,200. The society recently received a $400,000 donation from a man whose wife died of the disease. One relative is so determined to attract attention to PSP that in a few weeks, he will attempt to climb a frozen mountain peak in South America and unfurl a PSP flag at its summit.

This momentum is hitting a grim reality.

Fewer than a fifth of the 20,000 Americans believed to have PSP have been diagnosed. Many people have been mistakenly told they have Alzheimer's or Parkinson's, two related diseases.

All three are conditions in which brain cells gradually die. In PSP, those cells are in a few tiny but important places in the base of the brain. It usually strikes people in their 60s, causing trouble with vision, swallowing, speaking, walking and balance. Patients say they feel as if they're moving through molasses. The course of the disease is faster than Parkinson's, leading to death in about seven years.

And unlike Alzheimer's, whose main problems involve memory and language loss, mental impairment is mild. Someone with PSP can consider their plunge into helplessness.

"Everyone feels very remote, very alone. Many of our friends and neighbors shied away, were embarrassed," said Mary Gualandi, whose husband, Gino, died in May 1996. The New Jersey woman formed a support group. "No one knows what this is. They know what Alzheimer's is, cancer is, AIDS is, but this is the lonely orphan."

Cross-country trip

Bill Scruggs and his wife, Audrey, expected an active retirement when he left his government job in 1983. He turned 55 on a Thursday, retired on Friday and flew to Florida with Audrey on Saturday. He lifted weights daily, danced with his wife, traveled around the world. Ten years later, on a cross-country trip, he first noticed feeling dopey and fatigued.

Doctors suspected the Alexandria, Va., man might have Parkinson's disease. The neurologist put him on one of the most successful treatments for it, dopamine. It had no effect even after the dosage was doubled and increased again.

Scruggs then got another diagnosis: multisystem atrophy, another degenerative disease related to Parkinson's. He tried other medicines, acupuncture and chiropractors. They even sought out a psychiatrist.

Without knowing why, Scruggs was giving up pieces of his life. He stopped driving, ballroom dancing, playing bridge, cracking open crabs while watching football games. Finally, in March, more than three years after his first symptoms, Scruggs was diagnosed with PSP. At 69, with no cure and few treatments, he was in for a cruel finale.

There are prescriptions to help Scruggs sleep nights and stay awake days. There is a therapist to teach him techniques to better swallow and speak. Mostly, though, there is the unspoken, the fear of what is to come.

New chair

His handshake is strong but stiff. His eyes seem locked on the picture window. His favorite blue corduroy chair has been pushed into the corner, replaced by a mechanical one with a seat that rises to help him get out of the chair.

During the past year, Scruggs' falls have become more frequent. The casualties: chairs, a glass tabletop, a sink, a wall in the upstairs hallway. Many other patients have had broken ribs, stitches, hospital stays. So far, Scruggs has escaped that.